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717785002: Coloboma of macula with brachydactyly type B syndrome (disorder)


Status: current, Not sufficiently defined by necessary conditions definition status. Date: 31-Jan 2017. Module: SNOMED CT core module

Descriptions:

Id Description Lang Type Status Case? Module
3323594014 Coloboma of macula with brachydactyly type B syndrome (disorder) en Fully specified name Active Only initial character case insensitive SNOMED CT core module
3323595010 Coloboma of macula with brachydactyly type B syndrome en Synonym Active Only initial character case insensitive SNOMED CT core module
3323596011 Sorsby syndrome en Synonym Active Entire term case sensitive SNOMED CT core module


0 descendants.

Expanded Value Set


Outbound Relationships Type Target Active Characteristic Refinability Group Values
Coloboma of macula with brachydactyly type B syndrome Is a Congenital anomaly of macula false Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a Autosomal dominant hereditary disorder true Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a Multiple malformation syndrome with limb defect as major feature true Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a Congenital ocular coloboma false Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a Hereditary disorder of the visual system true Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Is a Brachydactyly syndrome type B true Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Associated morphology Abnormally short growth true Inferred relationship Existential restriction modifier 3
Coloboma of macula with brachydactyly type B syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 3
Coloboma of macula with brachydactyly type B syndrome Finding site Entire digit true Inferred relationship Existential restriction modifier 3
Coloboma of macula with brachydactyly type B syndrome Associated morphology Congenital failure of fusion false Inferred relationship Existential restriction modifier 4
Coloboma of macula with brachydactyly type B syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 4
Coloboma of macula with brachydactyly type B syndrome Finding site Macula lutea structure false Inferred relationship Existential restriction modifier 4
Coloboma of macula with brachydactyly type B syndrome Occurrence Congenital false Inferred relationship Existential restriction modifier 5
Coloboma of macula with brachydactyly type B syndrome Associated morphology Abnormally short growth false Inferred relationship Existential restriction modifier 5
Coloboma of macula with brachydactyly type B syndrome Finding site Entire digit false Inferred relationship Existential restriction modifier 5
Coloboma of macula with brachydactyly type B syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 3
Coloboma of macula with brachydactyly type B syndrome Finding site Bone structure false Inferred relationship Existential restriction modifier 3
Coloboma of macula with brachydactyly type B syndrome Associated morphology Developmental failure of fusion false Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Finding site Macula lutea structure false Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Is a Congenital coloboma of macula lutea true Inferred relationship Existential restriction modifier
Coloboma of macula with brachydactyly type B syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 3
Coloboma of macula with brachydactyly type B syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Occurrence Congenital true Inferred relationship Existential restriction modifier 2
Coloboma of macula with brachydactyly type B syndrome Pathological process Pathological developmental process true Inferred relationship Existential restriction modifier 2
Coloboma of macula with brachydactyly type B syndrome Finding site Bone structure true Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Associated morphology Congenital dysplasia false Inferred relationship Existential restriction modifier 1
Coloboma of macula with brachydactyly type B syndrome Finding site Macula lutea structure true Inferred relationship Existential restriction modifier 2
Coloboma of macula with brachydactyly type B syndrome Associated morphology Developmental failure of fusion true Inferred relationship Existential restriction modifier 2
Coloboma of macula with brachydactyly type B syndrome Associated morphology Dysplasia true Inferred relationship Existential restriction modifier 1

Inbound Relationships Type Active Source Characteristic Refinability Group

This concept is not in any reference sets

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